Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel
| Autor: | Wei Wang, Binyi Xiao, Si-Zhen Wang, Desen Wan, Pei-Rong Ding, Xiaodan Wu, Ying Hu, Wu Jiang, Lin Li, Chuan-Feng Ke, Yuan Li, Lingheng Kong, Zhizhong Pan, Rui-Hua Xu, Wei-Hua Guo, Jinghua Tang |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
0301 basic medicine Oncology medicine.medical_specialty Colorectal cancer Genetic counseling Germline 03 medical and health sciences 0302 clinical medicine Age groups Neoplastic Syndromes Hereditary Internal medicine Genetics medicine Humans Genetic Predisposition to Disease In patient Genetic Testing Trial registration Germ-Line Mutation Genetics (clinical) Aged business.industry Cancer susceptibility medicine.disease Germ Cells 030104 developmental biology 030220 oncology & carcinogenesis Colorectal Neoplasms Cancer risk business |
| Zdroj: | Journal of Medical Genetics. 59:370-376 |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmedgenet-2020-107230 |
| Popis: | PurposeUniversal germline testing in patients with colorectal cancer (CRC) with a multigene panel can detect various hereditary cancer syndromes. This study was performed to understand how to choose a testing panel and whether the result would affect clinical management.MethodsWe prospectively enrolled 486 eligible patients with CRC, including all patients with CRC diagnosed under age 70 years and patients with CRC diagnosed over 70 years with hereditary risk features between November 2017 and January 2018. All participants received germline testing for various hereditary cancer syndromes.ResultsThe prevalence of germline pathogenic variants (PVs) in cancer susceptibility genes was 7.8% (38/486), including 25 PVs in genes with high-risk CRC susceptibility (the minimal testing set) and 13 PVs in genes with moderate-risk CRC susceptibility or increased cancer risk other than CRC (the additional testing set). All the clinically relevant PVs were found in patients diagnosed under age 70 years. Among them, 11 patients would not have been diagnosed if testing reserved to present guidelines. Most (36/38) of the patients with PVs benefited from enhanced surveillance and tailored treatment. PVs in genes from the minimal testing set were found in all age groups, while patients carried PVs in genes from the additional testing set were older than 40 years.ConclusionUniversal germline testing for cancer susceptibility genes should be recommended among all patients with CRC diagnosed under age 70 years. A broad panel including genes from the additional testing set might be considered for patients with CRC older than 40 years to clarify inheritance risks.Trial registration numberNCT03365986. |
| Databáze: | OpenAIRE |
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